Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ISCA-37390-Loss	region		Expert Review Green;Expert Review	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cri-du-chat syndrome MIM#123450;intellectual disability;microcephaly				16953888		False	3	100;0;0	0.158	True					5			37695	11347150				3		80	small	Cri-du-chat syndrome, 5p15 terminal deletion syndrome
ISCA-37392-Gain	region		Expert Review Green;Expert Review	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Chromosome 7q11.23 duplication syndrome, MIM#	609757;intellectual disability;hypotonia;macrocephaly;seizures;aortic dilatation"				33187326;27615053;26610320		False	3	100;0;0	0.158	True					7			73330451	74728175					3	80	cnv_gain	7q11.23 duplication syndrome
ISCA-37392-Loss	region		Expert Review Green;Expert Review	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Williams-Beuren syndrome, MIM#	194050;intellectual disability;growth retardation;cardiovascular disease"				20301427		False	3	100;0;0	0.158	True					7			73330451	74728175				3		80	cnv_loss	Williams-Beuren syndrome, 7q11.23 deletion syndrome
ISCA-37393-Gain	region		Expert Review Green;Expert Review	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Cat eye syndrome, MIM#	115470;coloboma;anal atresia;heart and renal malformations"						False	3	100;0;0	0.158	True					22			16912063	18109094					3	80	cnv_gain	Cat eye syndrome, 22q11.21 tetrasomy syndrome
ISCA-37394-Loss	region	HDAC4	Expert Review Green;Expert Review	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Chromosome 2q37 deletion syndrome, MIM#	600430;brachydactyly;intellectual disability"				20691407		False	3	100;0;0	0.158	True		ENSG00000068024	ENSG00000068024	HGNC:14063	2			239032997	241988449				3		80	cnv_loss	2q37.3 deletion syndrome
ISCA-37396-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 15q24 deletion syndrome, MIM#613406;intellectual disability;facial dysmorphisms;congenital malformations of the hands and feet, eye, and genitalia;joint laxity;and growth retardation and failure to thrive				22180641;19557438;19233321;22359776		False	3	100;0;0	0.158	True					15			72671374	75680568				3		80	cnv_loss	Chromosome 15q24 deletion syndrome
ISCA-37397-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal;intellectual disability;dysmorphic features;congenital anomalies				21671380;31479204		False	3	100;0;0	0.158	True					22			21443089	23306926					3	80	cnv_gain	Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal
ISCA-37397-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 22q11.2 deletion syndrome, distal, MIM#611867;intellectual disability;seizures;growth retardation;multiple congenital anomalies				21671380;23765049;18179902		False	3	100;0;0	0.158	True					22			21443089	23306926				3		80	cnv_loss	Chromosome 22q11.2 deletion syndrome, distal, MIM#611867
ISCA-37400-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Chromosome 16p11.2 duplication syndrome, MIM#	614671;intellectual disability;autism"				21841781;18184952;21731881		False	3	100;0;0	0.158	True					16			29638675	30188534					3	80	cnv_gain	Chromosome 16p11.2 duplication syndrome, proximal
ISCA-37400-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Chromosome 16p11.2 deletion syndrome, proximal, MIM#	611913;autism;intellectual disability;seizures"						False	3	100;0;0	0.158	True					16			29638675	30188534				3		80	cnv_loss	Chromosome 16p11.2 deletion syndrome, proximal
ISCA-37401-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, MIM#	194072"						False	3	100;0;0	0.158	True					11			31781961	32489442				3		80	cnv_loss	Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome
ISCA-37404-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Chromosome 15q11q13 duplication syndrome;{Autism susceptibility 4}	608636;intellectual disability;seizures;ataxia"				24239951;24075935		False	3	100;0;0	0.158	True					15			22782170	28134729					3	80	cnv_gain	Chromosome 15q11q13 duplication syndrome
ISCA-37404-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Angelman syndrome, MIM#	105830;Prader-Willi syndrome, MIM#	176270"				20301323;20301505		False	3	100;0;0	0.158	True					15			22782170	28134729				3		80	cnv_loss	Angelman and Prader-Willi syndromes
ISCA-37405-Loss	region	NPHP1	Expert Review Green;Expert list	Common deletion and duplication syndromes			BIALLELIC, autosomal or pseudoautosomal	"Nephronophthisis 1, juvenile, MIM#	256100;Joubert syndrome 4, MIM#	609583;Senior-Loken syndrome 1, MIM#	266900"				29146700		False	3	100;0;0	0.158	True		ENSG00000144061	ENSG00000144061	HGNC:7905	2			110122329	110205017				3		80	cnv_loss	NPHP1 deletion
ISCA-37406-Loss	region	CREBBP	Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome				20101707;17473832;16783566		False	3	100;0;0	0.158	True		ENSG00000005339	ENSG00000005339	HGNC:2348	16			3725055	3880120				3		80	cnv_loss	Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome
ISCA-37408-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Chromosome 2p16.1-p15 deletion syndrome	612513;intellectual disability;autism;microcephaly;dysmorphic features"				25938782;16963482		False	3	100;0;0	0.158	True					2			58912065	62261736				3		80	cnv_loss	Chromosome 2p16.1-p15 deletion syndrome
ISCA-37411-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Chromosome 15q13.3 microdeletion syndrome, MIM#	612001;intellectual disability;epilepsy"				19372089;20979196		False	3	100;0;0	0.158	True					15			30844901	32153207				3		80	cnv_loss	Chromosome 15q13.3 microdeletion syndrome
ISCA-37415-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	16p13.11 microduplication syndrome;intellectual disability;autism;aortopathy				30287593		False	3	100;0;0	0.158	True					16			15410597	16198411					3	80	cnv_gain	16p13.11 microduplication syndrome
ISCA-37415-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	16p13.11 microdeletion syndrome;intellectual disability;autism;epilepsy				24105370;23637818;22523559		False	3	100;0;0	0.158	True					16			15410597	16198411				3		80	cnv_loss	Chromosome 16p13.11 deletion syndrome
ISCA-37417-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Ichthyosis, X-linked, MIM#	308100"						False	3	100;0;0	0.158	True					X			6537771	8156914				3		80	cnv_loss	Ichthyosis, X-linked, STS deletion
ISCA-37418-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Potocki-Lupski syndrome, MIM#	610883;intellectual disability;hypotonia;congenital anomalies"						False	3	100;0;0	0.158	True					17			16853797	20316338					3	80	cnv_gain	Potocki-Lupski syndrome
ISCA_37418-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Smith-Magenis syndrome, MIM#	182290;intellectual disability;dysmorphic features;behavioural issues"						False	3	100;0;0	0.158	True					17			16853797	20316338				3		80	cnv_loss	Smith-Magenis syndrome
ISCA-37418-Loss	region		Expert Review Green;NHS GMS;ClinGen	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Smith-Magenis syndrome, MIM#182290						False	3	100;0;0	0.158	True					17			16853797	20316338				3		80	cnv_loss	17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
ISCA-37420-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Koolen-De Vries syndrome, MIM#	610443;intellectual disability;hypotonia;dysmorphic features"						False	3	100;0;0	0.158	True					17			45608879	46087510				3		80	cnv_loss	Koolen-de Vries syndrome
ISCA-37421-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Chromosome 1q21.1 duplication syndrome, MIM#	612475;intellectual disability;autism;macrocephaly"				32655619		False	3	100;0;0	0.158	True					1			147105904	147922392					3	80	cnv_gain	Chromosome 1q21.1 duplication syndrome, distal BP3-BP4
ISCA-37421-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Chromosome 1q21.1 deletion syndrome, MIM#	612474;intellectual disability;microcephaly;congenital anomalies"				32655619		False	3	100;0;0	0.158	True					1			147105904	147922392				3		80	cnv_loss	Chromosome 1q21.1 deletion syndrome, distal BP3-BP4
ISCA-37423-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	8p23.1 duplication syndrome;intellectual disability;congenital heart disease				26097203;25520754		False	3	100;0;0	0.158	True					8			8261773	11908210					3	80	cnv_gain	8p23.1 duplication syndrome
ISCA-37423-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	8p23.1 deletion syndrome;congenital heart disease;developmental delay				23696316;23011633;20969981		False	3	100;0;0	0.158	True					8			8261773	11908210				3		80	cnv_loss	8p23.1 deletion syndrome
ISCA-37424-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked);intellectual disability;autism;macrocephaly				20345475;25846706		False	3	100;0;0	0.158	True					10			79923892	86983483				3		80	cnv_loss	10q22.3q23.2 deletion syndrome (LCR-3/4-flanked)
ISCA-37425-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 5q35 duplication syndrome;microcephaly;failure to thrive;seizures				24819041		False	3	100;0;0	0.158	True					5			176301975	177586960					3	80	cnv_gain	Chromosome 5q35 duplication syndrome
ISCA-37425-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sotos syndrome, chromosome 5q35 deletion;intellectual disability;overgrowth				23190751;19596467		False	3	100;0;0	0.158	True					5			176301975	177586960				3		80	cnv_loss	Sotos syndrome, chromosome 5q35 deletion
ISCA-37429-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Wolf-Hirschhorn syndrome, MIM#	194190;intellectual disability;growth retardation;seizures;dysmorphic features"						False	3	100;0;0	0.158	True					4			337779	2009235				3		80	cnv_loss	Wolf-Hirschhorn syndrome, chromosome 4p16.3 terminal deletion
ISCA-37430-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 17p13.3 duplication syndrome, centromeric, MIM#613215;intellectual disability						False	3	100;0;0	0.158	True					17			1344539	2685615					3	80	cnv_gain	Chromosome 17p13.3 duplication syndrome, centromeric
ISCA-37430-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Miller-Dieker lissencephaly syndrome, MIM#	247200"						False	3	100;0;0	0.158	True					17			1344539	2685615				3		80	cnv_loss	Miller-Dieker syndrome, chromosome 17p13.3 deletion syndrome
ISCA-37431-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Chromosome 17q11.2 duplication syndrome, 1.4-Mb	MIM#618874;NF1 microduplication;intellectual disability;micro- and macrocephaly;seizures;dysmorphic features"				22241097		False	3	100;0;0	0.158	True					17			30835804	31891648					3	80	cnv_gain	Chromosome 17q11.2 duplication syndrome
ISCA-37431-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 17q11.2 deletion syndrome, MIM#613675;NF1 deletion syndrome				12660952;14729829		False	3	100;0;0	0.158	True					17			30835804	31891648				3		80	cnv_loss	Chromosome 17q11.2 deletion syndrome, NF1 deletion syndrome
ISCA-37432-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Chromosome 17q12 duplication syndrome	614526;intellectual disability;seizures;congenital anomalies"				PMID: 19844256		False	3	100;0;0	0.158	True					17			36458167	37854617					3	80	cnv_gain	Chromosome 17q12 duplication syndrome
ISCA-37432-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Chromosome 17q12 deletion syndrome	MIM#614527;Renal cysts and diabetes (RCAD) syndrome"				PMID: 19844256		False	3	100;0;0	0.158	True					17			36458167	37854617				3		80	cnv_loss	Chromosome 17q12 deletion syndrome
ISCA-37433-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Chromosome 22q11.2 microduplication syndrome	MIM#608363"				PMID: 18707033		False	3	100;0;0	0.158	True					22			18924718	20299686					3	80	cnv_gain	Chromosome 22q11.2 microduplication syndrome
ISCA-37433-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	DiGeorge syndrome MIM#188400						False	3	100;0;0	0.158	False					22			18924718	20299686				3		80	cnv_loss	DiGeorge syndrome
ISCA-37434-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Chromosome 1p36 deletion syndrome MIM#607872;intellectual disability;hypotonia;congenital anomalies				PMID: 12974736;18245432		False	3	100;0;0	0.158	True					1			898703	6229913				3		80	cnv_loss	Chromosome 1p36 deletion syndrome
ISCA-37436-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Charcot-Marie-Tooth disease type 1A, MIM#118220				PMID: 32648354		False	3	100;0;0	0.158	True					17			14194598	15567587					3	80	cnv_gain	Charcot-Marie-Tooth disease type 1A
ISCA-37436-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neuropathy, recurrent, with pressure palsies, MIM# 162500				PMID: 32356557;31118906;24726093		False	3	100;0;0	0.158	True					17			14194598	15567587				3		80	cnv_loss	Hereditary neuropathy with liability to pressure palsies
ISCA-37439-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Chromosome Xq28 duplication syndrome MIM#300815				PMID: 20004760		False	3	100;0;0	0.158	True					X			154336276	154660745					3	80	cnv_gain	Chromosome Xq28 duplication syndrome
ISCA-37440-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			BIALLELIC, autosomal or pseudoautosomal	"2p21 deletion syndrome;Hypotonia-cystinuria syndrome, MIM#	606407"				PMID: 18234729;23794250		False	3	100;0;0	0.158	True					2			44183133	44362502				30		80	cnv_loss	2p21 deletion syndrome
ISCA-37441-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Potocki-Shaffer syndrome MIM#601224;intellectual disability;multiple exostoses;biparietal foramina				PMID: 20140962		False	3	100;0;0	0.158	True					11			43873250	46130899				3		80	cnv_loss	Potocki-Shaffer syndrome
ISCA-37442-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Diabetes mellitus, transient neonatal 1, MIM#	601410"				8842729		False	3	100;0;0	0.158	True					6			143922155	144095424					3	80	cnv_gain	Chromosome 6q24-related transient diabetes mellitus, neonatal
ISCA-37443-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Chromosome 3q29 microdeletion syndrome MIM#609425;intellectual disability;autism				PMID: 20830797;19460468;19610115		False	3	100;0;0	0.158	True					3			196029183	197617794				3		80	cnv_loss	Chromosome 3q29 microdeletion syndrome
ISCA-37446-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D				PMID: 18707033		False	3	100;0;0	0.158	True					22			18924718	21111384					3	80	cnv_gain	Chromosome 22q11.2 microduplication syndrome
ISCA-37446-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 22q11.2 deletion syndrome, distal MIM#611867;intellectual disability;autism;multiple congenital anomalies				18179902;23765049;21671380		False	3	100;0;0	0.158	True					22			18924718	21111384				3		80	cnv_loss	Chromosome 22q11.2 deletion syndrome, distal
ISCA-37467-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Syndactyly, type IV, MIM#	186200;limb anomalies;congenital heart disease;congenital anomalies"				19847792;33218365;32184803;28035386;25944787		False	3	100;0;0	0.158	True					7			156791102	156791874					3	80	cnv_gain	Chromosome 7q36.3 duplication syndrome (SHH cis-regulatory duplication, ZRS)
ISCA-37468-Loss	region	MAOB	ClinGen;Expert Review Green	Common deletion and duplication syndromes			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Chromosome Xp11.23 deletion syndrome				PMID: 22126752;16385466;20186789		False	3	100;0;0	0.158	True		ENSG00000069535	ENSG00000069535	HGNC:6834	X			43654906	43882474				3		80	cnv_loss	Xp11.23 region (includes MAOA and MAOB) Loss
ISCA-37478-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 15q11q13 duplication syndrome, MIM#608636;autism;intellectual disability;ataxia						False	3	100;0;0	0.158	True					15			23513243	28312040					3	80	cnv_gain	Chromosome 15q11q13 duplication syndrome
ISCA-37478-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Angelman syndrome, MIM# 105830;Prader-Willi syndrome, MIM# 176270				22045295		False	3	100;0;0	0.158	True					15			23513243	28312040				3		80	cnv_loss	Angelman and Prader-Willi syndromes, Class 2 BP2-BP3 deletions
ISCA-37486-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3;intellectual disability;autism;obesity				19914906;32993859;32732550;32597026;32537635		False	3	100;0;0	0.158	True					16			28811313	29035181				3		80	cnv_loss	Chromosome 16p11.2 deletion syndrome
ISCA-37493-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	1q43q44 microdeletion syndrome;intellectual disability;seizures;microcephaly;corpus callosum abnormalities				28283832;31929334;31830750;30853971		False	3	100;0;0	0.158	True					1			243124428	245154985				3		80	cnv_loss	1q43q44 microdeletion syndrome
ISCA-37494-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Chromosome Xq28 duplication syndrome MIM#300815;intellectual disability;hypotonia;seizures;spasticity;recurrent respiratory infections				25927380;20301461;32043567;32112660		False	3	100;0;0	0.158	True					X			154890328	155335092					3	80	cnv_gain	Chromosome Xq28 duplication syndrome
ISCA-37500-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Chromosome 15q25 deletion syndrome	MIM#614294;intellectual disability;congenital abnormalities;haematological abnormalities"				20921022;24352913		False	3	100;0;0	0.158	True					15			82534141	84045981				3		80	cnv_loss	Chromosome 15q25 deletion syndrome
ISCA-37501-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355;intellectual disability;microcephaly;congenital anomalies;pulmonary hypertension				20206336;31151956;30639323		False	3	100;0;0	0.158	True					17			60035641	62198448				3		80	cnv_loss	Chromosome 17q23.1-q23.2 deletion syndrome
ISCA-46290-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801;intellectual disability;seizures				19716111;27605428;29707408;16900295		False	3	100;0;0	0.158	True					X			48447780	52444265					3	80	cnv_gain	Chromosome Xp11.23-p11.22 duplication syndrome
ISCA-46295-Loss	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Chromosome 15q13.3 microdeletion syndrome MIM#612001;intellectual disability;seizures				PMID: 19289393		False	3	100;0;0	0.158	True					15			31727418	32153205				3		80	cnv_loss	Chromosome 15q13.3 microdeletion syndrome
ISCA-46299-Gain	region		Expert Review Green;Expert list	Common deletion and duplication syndromes			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Xp11.22 microduplication syndrome MIM#300705				PMID: 22840365		False	3	100;0;0	0.158	True					X			53334251	53766556					3	80	cnv_gain	Xp11.22 microduplication syndrome
ISCA-46303-Loss	region		Expert Review Green;ClinGen	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Campomelic dysplasia MIM#114290, Acampomelic campomelic dysplasia MIM#114290, 46XY sex reversal 10 MIM#616425, Pierre Robin syndrome MIM#261800				PMID: 41272840. 24934569, 26663529, 19234473, 26152199, 30552336		False	3	100;0;0	0.158	True					17			69896855	71796293				3		80	cnv_loss	SOX9 upstream enhancer loss
ISCA-46304-Gain	region	MECP2	Expert Review Green;ClinGen	Common deletion and duplication syndromes			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Syndromic X-linked intellectual disability Lubs type, MONDO:0010283				PMID: 29141583;22679399		False	3	100;0;0	0.158	True		ENSG00000169057	ENSG00000169057	HGNC:6990	X			154008529	154110279				0	3	80	cnv_gain	Xq28 (includes MECP2) gain
ISCA-46743-Gain	region	STAG2	Expert Review Green;ClinGen	Common deletion and duplication syndromes			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Xq25 duplication syndrome, MIM#300979						False	3	100;0;0	0.158	True		ENSG00000101972	ENSG00000101972	HGNC:11355	X			123900469	124102669				3	3	80	cnv_both	Xq25 duplication syndrome, MIM#300979
ISCA-37448-Loss	region	NIPA1	ClinGen	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 15q11.2 deletion syndrome, MIM#615656						False	1	100;0;0	0.158	False		ENSG00000170113	ENSG00000170113	HGNC:17043	15			22782170	23040134				3	40	80	cnv_loss	Chromosome 15q11.2 deletion syndrome, MIM#615656
ISCA-37494-Loss	region	RAB39B	ClinGen	Common deletion and duplication syndromes			X-LINKED: hemizygous mutation in males, biallelic mutations in females					PMID: 25927380, 21984752		False	1	100;0;0	0.158	False		ENSG00000155961	ENSG00000155961	HGNC:16499	X			154890328	155335092				3		80	cnv_loss	Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss
ISCA-37498-Loss	region	SHANK2	ClinGen	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	11q13.2q13.4 deletion syndrome						False	1	100;0;0	0.158	False		ENSG00000162105	ENSG00000162105	HGNC:14295	11			67996175	71525885				3	0	80	cnv_loss	11q13.2q13.4 recurrent region
ISCA-46296-Loss	region		ClinGen	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted					PMID: 25217958		False	1	0;0;0	0.158	False					15			72671374	75215971				3		80	cnv_loss	15q24 recurrent deletion (LCR A- LCR C)
ISCA-46300-Loss	region	SIN3A	ClinGen	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 15q24 deletion syndrome, MONDO:0013256						False	1	100;0;0	0.158	False		ENSG00000169375	ENSG00000169375	HGNC:19353	15			75339446	75680568				3	0	80	cnv_loss	Chromosome 15q24 deletion syndrome distal
ISCA-46302-Gain	region	NR0B1	ClinGen	Common deletion and duplication syndromes			X-LINKED: hemizygous mutation in males, biallelic mutations in females	46,XY sex reversal 2, MONDO:0010226						False	1	100;0;0	0.158	False		ENSG00000169297	ENSG00000169297	HGNC:7960	X			30176883	30336883				0	3	80	cnv_gain	Xp21.2 duplication syndrome